ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.643A>C (p.Asn215His)

dbSNP: rs2152005339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873761 SCV002163709 pathogenic PRPH2-related disorder 2022-10-13 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function. This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 215 of the PRPH2 protein (p.Asn215His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 25472526; Invitae). ClinVar contains an entry for this variant (Variation ID: 1175294). This variant disrupts the p.Asn215 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29847639; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530365 SCV001745169 uncertain significance not provided 2021-05-21 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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